Identification of the regulatory circuit governing corneal epithelial fate determination and disease von Smits, Jos G A, Cunha, Dulce Lima, Amini, Maryam, Bertolin, Marina, Laberthonnière, Camille, Qu, Jieqiong, Owen, Nicholas, Latta, Lorenz, Seitz, Berthold, Roux, Lauriane N, Stachon, Tanja, Ferrari, Stefano, Moosajee, Mariya, Aberdam, Daniel, Szentmary, Nora, van Heeringen, Simon J, Zhou, Huiqing

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Single-Cell RNA Sequencing: Opportunities and Challenges for Studies on Corneal Biology in Health and Disease von Arts, Julian A, Laberthonnière, Camille, Lima Cunha, Dulce, Zhou, Huiqing

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In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype von Laberthonnière, Camille, Delourme, Mégane, Chevalier, Raphaël, Dion, Camille, Ganne, Benjamin, Hirst, David, Caron, Leslie, Perrin, Pierre, Adélaïde, José, Chaffanet, Max, Xue, Shifeng, Nguyen, Karine, Reversade, Bruno, Déjardin, Jérôme, Baudot, Anaïs, Robin, Jérôme D, Magdinier, Frédérique

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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology von Ortuño-Costela, María Del Carmen, Cerrada, Victoria, Moreno-Izquierdo, Ana, García-Consuegra, Inés, Laberthonnière, Camille, Delourme, Mégane, Garesse, Rafael, Arenas, Joaquín, Fuster García, Carla, García García, Gema, Millán, José María, Magdinier, Frédérique, Gallardo, María Esther

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Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime von Robin, Jérôme D., Jacome Burbano, Maria‐Sol, Peng, Han, Croce, Olivier, Thomas, Jean Luc, Laberthonniere, Camille, Renault, Valerie, Lototska, Liudmyla, Pousse, Mélanie, Tessier, Florent, Bauwens, Serge, Leong, Waiian, Sacconi, Sabrina, Schaeffer, Laurent, Magdinier, Frédérique, Ye, Jing, Gilson, Eric

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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells von Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphael, Laberthonniere, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altie, Alexandre, Nguyen, Karine, Levy, Nicolas, Robin, Jerome D., Magdinier, Frederique

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Bring It to an End: Does Telomeres Size Matter? von Laberthonnière, Camille, Magdinier, Frédérique, Robin, Jérôme D

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Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres von Laberthonnière, Camille, Novoa‐del‐Toro, Elva‐Maria, Delourme, Mégane, Chevalier, Raphaël, Broucqsault, Natacha, Mazaleyrat, Kilian, Streichenberger, Nathalie, Manel, Véronique, Bernard, Rafaëlle, Salort Campana, Emmanuelle, Attarian, Shahram, Nguyen, Karine, Robin, Jérôme D., Baudot, Anais, Magdinier, Frédérique

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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy von Gaillard, Marie-Cécile, Broucqsault, Natacha, Morere, Julia, Laberthonnière, Camille, Dion, Camille, Badja, Cherif, Roche, Stéphane, Nguyen, Karine, Magdinier, Frédérique, Robin, Jérôme D.

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AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome von Laberthonniere, Camille, Novoa-del-Toro, Elva Maria, Chevalier, Raphael, Broucqsault, Natacha, Rao, Vanitha Venkoba, Trani, Jean Philippe, Nguyen, Karine, Xue, Shifeng, Reversade, Bruno, Robin, Jerome D., Baudot, Anais, Magdinier, Frederique

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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism von Roche, Stéphane, Dion, Camille, Broucqsault, Natacha, Laberthonnière, Camille, Gaillard, Marie-Cécile, Robin, Jérôme D, Lagarde, Arnaud, Puppo, Francesca, Vovan, Catherine, Chaix, Charlene, Campana, Emmanuelle Salort, Attarian, Shahram, Bartoli, Marc, Bernard, Rafaelle, Nguyen, Karine, Magdinier, Frédérique

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SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite von Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Schlupp-Robaglia, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Binetruy, Bernard, Salort Campana, Emmanuelle, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin, Jérôme D, Magdinier, Frédérique

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I.09 Induced pluripotent stem cells for modeling neuromuscular disorders: development of disease-specific assays, live cells functional testing and drug design von Delourme, M., Laberthonnière, C., Testa, S., Caron, L., Magdinier, F.

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Régulation de la chromatine par SMCHD1 : implication dans la dystrophie facio-scapulo-humérale et le syndrome d'arhinie et de microphtalmie de Bosma von Laberthonnière, Camille

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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite von Dion, Camille, Roche, Stéphane, Laberthonnière, Camille, Broucqsault, Natacha, Mariot, Virginie, Xue, Shifeng, Gurzau, Alexandra D, Nowak, Agnieszka, Gordon, Christopher T, Gaillard, Marie-Cécile, El-Yazidi, Claire, Thomas, Morgane, Robaglia-Schlupp, Andrée, Missirian, Chantal, Malan, Valérie, Ratbi, Liham, Sefiani, Abdelaziz, Wollnik, Bernd, Salort-Campana, Emmanuelle, Binétruy, Bernard, Attarian, Shahram, Bernard, Rafaelle, Nguyen, Karine, Amiel, Jeanne, Dumonceaux, Julie, Murphy, James M, Déjardin, Jérôme, Blewitt, Marnie E, Reversade, Bruno, Robin-Ducellier, Jérôme, Magdinier, Frédérique

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Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells von Mazaleyrat, Kilian, Badja, Cherif, Broucqsault, Natacha, Chevalier, Raphaël, Laberthonnière, Camille, Dion, Camille, Baldasseroni, Lyla, El-Yazidi, Claire, Thomas, Morgane, Bachelier, Richard, Altié, Alexandre, Nguyen, Karine, Lévy, Nicolas, Robin, Jérôme D, Magdinier, Frédérique

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Identification of the regulatory circuit governing corneal epithelial fate determination and disease trackhub and additional data von Smits, Jos Gerardus Adrianus, Lima Cunha, Dulce, Amini, Maryam, Bertolin, Marina, Laberthonnière, Camille, Qu, Jieqiong, Owen, Nicholas, Latta, Lorenz, Seitz, Berthold, Roux, Lauriane N, Stachon, Tanja, Ferrari, Stefano, Moosajee, Mariya, Aberdam, Daniel, Szentmary, Nora, van Heeringen, Simon J., Zhou, Huiqing

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